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Heterotaxy syndrome occurs in only four out of every 10,000 births, according to some estimates. Skilled physicians at Riley at IU Health have experience in treating this rare congenital heart defect.
This condition exists when the organs in the chest and abdomen develop on the opposite side of the body from their normal location. Heterotaxy can affect numerous organs, including the liver, stomach, intestines, lungs, heart and spleen.
Treating heterotaxy can be extremely complicated, given the number of organs involved and the presence of multiple congenital heart defects. Some children with heterotaxy syndrome, for example, are born with only one ventricle.
Another common feature of heterotaxy syndrome is the absence of a spleen, the existence of multiple, smaller spleens or a spleen that does not function effectively. Because the spleen plays an important role in fighting infection, an absent or malfunctioning spleen can make it harder for patients to recover from surgery or fight infections.
In healthy bodies, the right side and the left side are not identical. Likewise, organs that occur in pairs, such as the lungs, are not the same. In heterotaxy syndrome, however, dual organs are mirror images of each other—a trait that is known as isomerism.
There are two types of heterotaxy syndrome:
The exact cause of heterotaxy is not known. One theory is that it results from a failure of the axes of the fetus to rotate properly during pregnancy.
Symptoms of Heterotaxy Syndrome
Each occurrence of heterotaxy is unique, and symptoms may vary depending on which organs are affected. Children with right atrial isomerism begin to show symptoms shortly after birth due to defects in the critical structures of the heart. Labored breathing, difficulty with feeding, lack of energy and cyanosis (blue lips, nails, or skin) may be noticeable. Children with left atrial isomerism may be asymptomatic until later in childhood and even into adulthood.
Heterotaxy syndrome can be diagnosed before or after birth. Due to its many structural abnormalities, heterotaxy is often diagnosed with a fetal echocardiogram during pregnancy. This form of ultrasound captures detailed pictures of a baby’s heart while it is still in the womb.
Diagnostic testing after a baby is born can include chest x-rays and a detailed form of ultrasound known as an echocardiogram. A cardiac MRI provides another way to view the heart’s structural abnormalities. Since heterotaxy can involve disruption of the heart’s electrical system, an electrocardiogram, which measures the electrical activity of the heart, can be a useful diagnostic tool.
Every case of heterotaxy syndrome is unique, as are each patient’s treatments. The exact nature of the heart defects, the degree of splenic involvement and the extent of other organ abnormalities dictate the treatment.
Most children with left isomerism require surgery to correct the heart defects. However, some cases are treated with pacemakers or defibrillators that control heart rhythm. In rare cases, a patient may require no treatment beyond regular cardiac checkups.
Virtually all children with right isomerism need surgery to repair heart defects. These complex surgeries re-route the heart’s circulatory system and repair the heart, allowing it to function effectively with only one ventricle. Some heart problems are solved with the placement of stents. Occasionally, there is a need to look for an intestinal problem called malrotation, which may require surgery, as well.
Researchers at Riley at IU Health and the Indiana University School of Medicine study families with heterotaxy and related congenital heart defects to clarify the molecular genetics of this disorder. These studies may assist with future genetic counseling and contribute to knowledge about the biology of normal and abnormal development of left-right anatomic asymmetry.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.
Sort through 13 facilities offering Heterotaxy Syndrome care by entering your city or zip below.
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